Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs147232392
rs147232392
3 0.882 0.240 X 137566740 missense variant G/A;T snv 2.6E-03 0.700 1.000 1 1990 1990
dbSNP: rs398122850
rs398122850
1 1.000 0.200 X 137566853 inframe insertion -/GCCGCC delins 0.700 0